Feature-driven classification reveals potential comorbid subtypes within childhood apraxia of speech.

BACKGROUND: Childhood apraxia of speech (CAS) is a neurodevelopmental disorder with heterogeneous communication and other comorbid manifestations. While previous studies have characterized speech deficits associated with CAS, few studies have examined variability in reading and language and/or other developmental comorbidities. We sought to identify comorbid subgroups within CAS that could be clinically relevant as well as genetically distinctive. METHODS: In a group of 31 children with CAS and 8 controls, we performed hierarchical cluster analysis utilizing measures of articulation, vocabulary, and reading. We also conducted a chart review of the children with CAS to examine other clinical characteristics in these children and their association with subgroup membership. RESULTS: We identified 3 comorbid subgroups within CAS of varying severity. The high severity subgroup was characterized by poor reading and vocabulary, and the moderate severity subgroup by poor reading and non-word repetition but average vocabulary, compared to the mild severity subgroup. Subgroups were indistinguishable with respect to speech sound production, the hallmark of CAS, all demonstrating poor articulation. Children in the most severe subgroup were more likely to have early problems feeding (p = 0.036). CONCLUSIONS: Children with CAS may potentially be classified into comorbidity groups based on performance on vocabulary and reading measures, providing additional insight into the heterogeneity within CAS with implications for educational interventions.

Heritability and longitudinal outcomes of spelling skills in individuals with histories of early speech and language disorders.

This study examined the spelling skills in middle childhood and adolescence in individuals with histories of early childhood speech sound disorders (SSD) with and without language impairment (LI). Youth without such histories were also included (No SSD/LI group). The heritability of spelling skills at each age level was estimated. Children with SSD were classified as SSD-only, SSD with LI but without childhood apraxia of speech (SSD + LI/ No CAS), and CAS and LI (CAS + LI). The SSD-only group did not differ in spelling from the No SSD/LI group, suggesting that SSD-only did not increase risk for poor spelling. The SSD + LI/No CAS and CAS + LI groups had poorer spelling skills than the SSD-only and No SSD/LI groups. Spelling was associated with phonological awareness in the middle childhood and adolescent samples and with rapid automatized naming in the adolescent sample. Heritability of spelling skills was stronger in adolescence than in middle childhood. Differences in the correlates of spelling and in heritability at the two ages suggest developmental changes in the factors contributing to spelling.

Psychosocial Comorbidities in Adolescents With Histories of Childhood Apraxia of Speech.

Purpose Adolescent psychosocial outcomes of individuals with histories of childhood apraxia of speech (CAS) were compared to outcomes of individuals with histories of speech sound disorders (SSD) only and SSD with language impairment (LI). It was hypothesized that individuals with more severe and persistent disorders such as CAS would report poorer psychosocial outcomes. Method Groups were compared using analyses of variance on a psychosocial assessment battery that included measures of hyperactivity and inattention, anxiety, depression, internalizing and externalizing behaviors, thought problems, and social outcomes. Results Results revealed significant group differences on self-report of social problems and parent report of hyperactivity, thought problems, and social problems at adolescence. Compared to the SSD-only group, the CAS group had significantly higher parental ratings of hyperactivity and social problems in adolescence. The CAS and SSD + LI groups did not differ on psychosocial measures, possibly due to the high rate of comorbid LI in the CAS group. The CAS group also had more individuals who scored in the borderline/clinical range on self-report of social problems than the SSD-only group. The CAS group did not differ from the SSD + LI group in the number of participants scoring in the borderline/clinical range on measures. Conclusions Individuals with histories of CAS demonstrate increased rates of social problems and hyperactivity based on parent ratings compared to adolescents with histories of SSD only; however, most do not score within the clinical range. The persistence of speech sound errors combined with self-reported and parent-reported social difficulties suggests that speech-language pathologists should be sensitive to the social and emotional impact of CAS and make appropriate referrals to mental health professionals when warranted.

Association between genes regulating neural pathways for quantitative traits of speech and language disorders.

Speech sound disorders (SSD) manifest as difficulties in phonological memory and awareness, oral motor function, language, vocabulary, reading, and spelling. Families enriched for SSD are rare, and typically display a cluster of deficits. We conducted a genome-wide association study (GWAS) in 435 children from 148 families in the Cleveland Family Speech and Reading study (CFSRS), examining 16 variables representing 6 domains. Replication was conducted using the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 18 significant loci (combined p < 10-8) that we pursued bioinformatically. We prioritized 5 novel gene regions with likely functional repercussions on neural pathways, including those which colocalized with differentially methylated regions in our sample. Polygenic risk scores for receptive language, expressive vocabulary, phonological awareness, phonological memory, spelling, and reading decoding associated with increasing clinical severity. In summary, neural-genetic influence on SSD is primarily multigenic and acts on genomic regulatory elements, similar to other neurodevelopmental disorders.

Reading Outcomes for Individuals With Histories of Suspected Childhood Apraxia of Speech.

Purpose The primary aims of this study were to examine the speech-language correlates of decoding difficulties in children with histories of suspected childhood apraxia of speech (sCAS) and to identify predictors of low-proficiency reading levels. Method Participants were school-age children and adolescents, 7-18 years of age, diagnosed with sCAS (n = 40) or speech sound disorder but no sCAS (SSD-no sCAS; n = 119). The sCAS and SSD-no sCAS reading groups were compared on measures of performance IQ, oral language, phonological awareness, rapid automatic naming, diadochokinetic rates, single word articulation, and multisyllable and nonsense word repetition. Logistic regression analyses were employed to identify predictors of low-proficiency reading in the sCAS and SSD-no sCAS groups. Results Sixty-five percent of the participants with sCAS compared to 24% of those with SSD-no sCAS were classified as low-proficiency readers based on nonsense and single word decoding. Analysis failed to reveal significant differences in reading, oral language, or phonological awareness between low-proficiency readers with sCAS and low-proficiency readers with SSD-no sCAS. Oral language and phonological awareness skills were the best predictors of reading level for all participants, followed by performance on multisyllabic word repetition and diadochokinetic rate. Conclusions The language and phonological awareness deficits of children with sCAS are related to their risks for reading failure. To a lesser degree, motor speech deficits and speech sound production also increase risks for reading difficulties. The findings justify early intervention for this subset of children.

Differential Long-Term Outcomes for Individuals With Histories of Preschool Speech Sound Disorders.

Purpose The goal of this study was to determine whether adolescent outcomes for individuals with histories of early speech sound disorders (SSD) could be differentiated by speech and language skills at earlier ages (preschool, 4-6 years, and school age, 7-10 years). Method The study used a retrospective longitudinal design. Participants with and without histories of early SSD were classified in adolescence as having no SSD, resolved SSD, low multisyllabic word (MSW; difficulty with MSW repetition but no errors in conversational speech), or persistent speech disorders (errors in both conversational speech and MSW repetition). Analysis of variance was employed to determine whether early speech, language, and literacy skills distinguished these adolescent outcome groups. Results Preschool and school-age skills differed for adolescents whose SSD had resolved from those who had persistent speech errors. Adolescents with errors solely in production of MSWs (Low MSW) did not differ in early speech and language skills from adolescents who had difficulty with both MSWs and persistent errors in conversation. Conclusions Speech and language assessments earlier in childhood can help establish risks for persistent SSD and other language and literacy difficulties in adolescence. Early identification of these clinically relevant subgroups of SSD may allow for early targeted interventions. Supplemental Material https://doi.org/10.23641/asha.9932279.

Psychosocial co-morbidities in adolescents and adults with histories of communication disorders.

BACKGROUND: Few studies have considered the long-term psychosocial outcomes of individuals with histories of early childhood speech sound disorders (SSD). Research on long-term psychosocial outcomes of individuals with language impairment (LI) have frequently failed to consider the effects of co-morbid SSD. The purpose of this study was to compare individuals with histories of SSD-only versus SSD with LI on these outcomes and to examine the contributions of other comorbid conditions including reading disorders (RD) and Attention Deficit Hyperactivity Disorder (ADHD). METHODS: Participants were adolescents aged 11-17 years (N=129) and young adults aged 18-33 years (N=98). Probands with SSD were originally recruited between 4 and 6 years of age and classified into SSD-only and SSD+LI groups. Siblings of these children were also assessed at this time and those without SSD or LI were followed as controls. Outcome measures at adolescence and adulthood included ratings of hyperactivity, inattention, anxiety, and depression, as well as internalizing, externalizing, social, and thought problems. Adult outcomes also included educational and employment status and quality of life ratings. Regression modeling was performed to examine the association of SSD, LI, RD, and ADHD with psychosocial outcomes using Generalized Estimating Equations. RESULTS: In the adolescent group, LI was associated with poorer ratings of psychosocial problems on all scales except depression. Histories of SSD-only, RD and ADHD did not independently predict any of the adolescent psychosocial measures. In contrast, LI in the adult sample was not significantly associated with any of the behavior ratings, though RD was related to higher ratings of hyperactivity and inattention and with higher parent ratings of internalizing and externalizing symptoms and thought problems. SSD did not predict any of the adult measures once other comorbid conditions were taken into account. CONCLUSIONS: Poor adolescent psychosocial outcomes for individuals with early childhood SSD were primarily related to comorbid LI and not to SSD per se. At adulthood, comorbid RD and ADHD may influence outcomes more significantly than LI.

Adolescent outcomes of children with early speech sound disorders with and without language impairment.

PURPOSE: In this study, the authors determined adolescent speech, language, and literacy outcomes of individuals with histories of early childhood speech sound disorders (SSD) with and without comorbid language impairment (LI) and examined factors associated with these outcomes. METHOD: This study used a prospective longitudinal design. Participants with SSD (n = 170), enrolled at early childhood (4-6 years) were followed at adolescence (11-18 years) and were compared to individuals with no histories of speech or language impairment (no SSD; n = 146) on measures of speech, language, and literacy. Comparisons were made between adolescents with early childhood histories of no SSD, SSD only, and SSD plus LI as well as between adolescents with no SSD, resolved SSD, and persistent SSD. RESULTS: Individuals with early childhood SSD with comorbid LI had poorer outcomes than those with histories of SSD only or no SSD. Poorer language and literacy outcomes in adolescence were associated with multiple factors, including persistent speech sound problems, lower nonverbal intelligence, and lower socioeconomic status. Adolescents with persistent SSD had higher rates of comorbid LI and reading disability than the no SSD and resolved SSD groups. CONCLUSION: Risk factors for language and literacy problems in adolescence include an early history of LI, persistent SSD, lower nonverbal cognitive ability, and social disadvantage.

Association between AVPR1A, DRD2, and ASPM and endophenotypes of communication disorders.

OBJECTIVES: Speech sound disorder (SSD) is one of the most common communication disorders, with a prevalence rate of 16% at 3 years of age, and an estimated 3.8% of children still presenting speech difficulties at 6 years of age. Several studies have identified promising associations between communication disorders and genes in brain and neuronal pathways; however, there have been few studies focusing on SSD and its associated endophenotypes. On the basis of the hypothesis that neuronal genes may influence endophenotypes common to communication disorders, we focused on three genes related to brain and central nervous system functioning: the dopamine D2 receptor (DRD2) gene, the arginine-vasopressin receptor 1a (AVPR1A) gene, and the microcephaly-associated protein gene (ASPM). METHODS: We examined the association of these genes with key endophenotypes of SSD - phonological memory measured through multisyllabic and nonword repetition, vocabulary measured using the Expressive One Word Picture Vocabulary Test and Peabody Picture Vocabulary Test, and reading decoding measured using the Woodcock Reading Mastery Tests Revised - as well as with the clinical phenotype of SSD. We genotyped tag single nucleotide polymorphisms in these genes and examined 498 individuals from 180 families. RESULTS: These data show that several single nucleotide polymorphisms in all three genes were associated with phonological memory, vocabulary, and reading decoding, with P less than 0.05. Notably, associations in AVPR1A (rs11832266) were significant after multiple testing correction. Gene-level tests showed that DRD2 was associated with vocabulary, ASPM with vocabulary and reading decoding, and AVPR1A with all three endophenotypes. CONCLUSION: Endophenotypes common to SSD, language impairment, and reading disability are all associated with these neuronal pathway genes.

Reading skills of students with speech sound disorders at three stages of literacy development.

PURPOSE: The relationship between phonological awareness, overall language, vocabulary, and nonlinguistic cognitive skills to decoding and reading comprehension was examined for students at 3 stages of literacy development (i.e., early elementary school, middle school, and high school). Students with histories of speech sound disorders (SSD) with and without language impairment (LI) were compared to students without histories of SSD or LI (typical language; TL). METHOD: In a cross-sectional design, students ages 7;0 (years;months) to 17;9 completed tests that measured reading, language, and nonlinguistic cognitive skills. RESULTS: For the TL group, phonological awareness predicted decoding at early elementary school, and overall language predicted reading comprehension at early elementary school and both decoding and reading comprehension at middle school and high school. For the SSD-only group, vocabulary predicted both decoding and reading comprehension at early elementary school, and overall language predicted both decoding and reading comprehension at middle school and decoding at high school. For the SSD and LI group, overall language predicted decoding at all 3 literacy stages and reading comprehension at early elementary school and middle school, and vocabulary predicted reading comprehension at high school. CONCLUSION: Although similar skills contribute to reading across the age span, the relative importance of these skills changes with children's literacy stages.

Speech-Sound Disorders and Attention-Deficit/Hyperactivity Disorder Symptoms.

PURPOSE: The purpose of this study was to examine the association of speech-sound disorders (SSD) with symptoms of attention-deficit/hyperactivity disorder (ADHD) by the severity of the SSD and the mode of transmission of SSD within the pedigrees of children with SSD. PARTICIPANTS AND METHODS: The participants were 412 children who were enrolled in a longitudinal family study of SSD. Children were grouped on the basis of the severity of their SSD as determined by their scores on the Goldman-Fristoe Test of Articulation and history of an SSD. Five severity groups were compared: no SSD, resolved SSD, mild SSD, mild-moderate SSD, and moderate-severe SSD. Participants were also coded for comorbid language impairment (LI), based on scores on a standardized language test. Pedigrees of children were considered to represent bilineal inheritance of disorders if there was a history for SSD on both the maternal and paternal sides of the family. Parents completed the ADHD rating scale and a developmental questionnaire for each of their children. RESULTS AND CONCLUSIONS: Children with moderate-severe SSD had higher ratings on the inattention and hyperactive/impulsivity scales than children with no SSD. Children whose family pedigrees demonstrated bilineal inheritance had higher ratings of inattention than children without bilineal inheritance. To determine the best predictors of ADHD ratings, multiple linear regression analyses were conducted. LI was more predictive of ADHD symptoms than SSD severity, bilineal inheritance of SSD, age, or gender. Findings support that LI rather than SSD is associated with ADHD.